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首页> American journal of kidney diseases : the official journal of the National Kidney Foundation> Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019.

Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019.

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第一作者： Andreia,Watanabe

第一单位： Department of Pediatrics, Pediatric Nephrology Unit, Instituto da Crianca, University of Sao Paulo School of Medicine, São Paulo, SP, Brazil.

作者： Andreia,Watanabe ^[1] ; Luciana S,Feltran ^[2] ; Matthew G,Sampson ^[3]

作者单位： Department of Pediatrics, Pediatric Nephrology Unit, Instituto da Crianca, University of Sao Paulo School of Medicine, São Paulo, SP, Brazil. ^[1] Nephrology Department, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil. ^[2] Department of Pediatrics-Nephrology, 4 Center for Computational Medicine and Bioinformatics, University of Michigan School of Medicine, Ann Arbor, MI. Electronic address: mgsamps@med.umich.edu. ^[3]

关键词 APOL1 Genomic Mendelian disease children focal segmental glomerulosclerosis (FSGS)gene discovery genetic genetic counseling kidney disease mutation nephrotic syndrome (NS)pediatric phenocopy precision medicine racial disparities review risk allele sequence variant

主题词儿童(Child);诊断, 鉴别(Diagnosis, Differential);基因检测(Genetic Testing);肾小球硬化症, 局灶节段性(Glomerulosclerosis, Focal Segmental);人类(Humans);肾病综合征(Nephrotic Syndrome)

DOI 10.1053/j.ajkd.2019.01.033

PMID 30955946

发布时间 2020-03-31

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American journal of kidney diseases : the official journal of the National Kidney Foundation

American journal of kidney diseases

2019年74卷4期

549-557页

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